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Devyser LynchFAP is a targeted NGS solution for the analysis of germline variants associated with hereditary colorectal cancer syndromes. The assay enables the detection of SNVs, indels, and CNVs in genes related to Lynch syndrome, familial adenomatous polyposis (FAP), and MUTYH-associated polyposis (MAP), also incorporating a specific LR-PCR for the correct localization of variants in PMS2 versus its pseudogene PMS2CL.

Key Aspects

Detection of SNVs, indels, and CNVs in 10 genes associated with cancer predisposition syndromes: MLH1, MSH2, MSH6, PMS2, EPCAM, APC, MUTYH, POLE, POLD1, and CTNNB1.
The design also covers the APC 1B promoter, CTNNB1 exon 3, EPCAM exon 9 and 3′ UTR region, and specific defined mutations for POLD1 and POLE.  
Inclusion of a specific Long-range PCR for PMS2, aimed at differentiating variants of the gene from the PMS2CL pseudogene.
Devyser LynchFAP Coverage
Dedicated software: Provides automated and easy-to-use analysis, with efficient variant analysis without the need for bioinformatics expertise.

Clinical applications

The kit is intended for the study of genes associated with hereditary gastrointestinal cancer syndromes, including MLH1, MSH2, MSH6, PMS2, and EPCAM for Lynch syndrome; APC for FAP; MUTYH for MAP; POLD1 and POLE for colon cancer; and CTNNB1, associated with endometrial cancer. 

Intended audience/user

Molecular biology laboratories and research centers with an interest in a targeted evaluation and simplified workflow of genes involved in hereditary cancer syndromes using NGS.

Benefits

Simplified workflow: easy to implement and suitable for laboratories with different sample volume needs.   Ready-to-use reagents, ensuring a reproducible process and reducing the risk of sample mix-up or contamination.     Integration of a specific LR-PCR for PMS2, which allows for more reliable discrimination of true gene variants versus the homologous regions of PMS2CL. Dedicated software that provides fast and intuitive results, without prior bioinformatics knowledge. A specific module is included to evaluate PMS2/PMS2CL gene conversion events.
Devyser LynchFAP Software

Presentation Details

Main reagents
8-A404-8 Devyser LynchFAP 8 tests
Additional reagents
8-A204 Devyser Library Clean

Area:

Hereditary cancer, Molecular Genetics, Targeted study of specific pathologies

Brand:

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